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Paper Details

Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.
Circ Genom Precis Med
11
2021
ACTN1, ACTN2, ACTN2 mutations, Alpha, Alpha-Actinin 2, C, Ca2, Cardiomyopathy, Cas9, GJA1, Patient, Patients, RNA, actin, alpha-actinin 2, cardiac sarcomeres, heterozygous indel cells, homozygous stop-gain cells, human, iPSC-cardiomyocytes, myocardial disease, patient, patient-derived iPSC-cardiomyocytes, patients
Author NameAffiliation
Malene E LindholmStanford University School of Medicine
David Jimenez-MoralesStanford University School of Medicine
Gerald J BerryStanford University School of Medicine
Euan A AshleyStanford University School of Medicine
Euan A AshleyCenter for Inherited Cardiovascular Diseases (K.S.M., Stanford University School of Medicine
Matthew T WheelerStanford University School of Medicine
Matthew T WheelerCenter for Inherited Cardiovascular Diseases (K.S.M., Stanford University School of Medicine
Matthew T WheelerStanford University School of Medicine
Matthew T WheelerCenter for Inherited Cardiovascular Diseases (K.S.M., Stanford University School of Medicine
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Release 1.2